Allele Registry
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What is the ClinGen Pathogenicity Calculator? The shift from genetic testing of individual genes to exome and genome sequencing has been accompanied by new challenges in genome interpretation.
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We observed that reg.clinicalgenome.org is using the nginx/1.10.2 os.HTML TITLE
Allele RegistryDESCRIPTION
Search ClinGen Allele Registry. NM 002496.3c.64C T. ENST00000413465.6c.637C T. NC 000017.10g.7578212G A. Reference sequence and position. What is the Allele Registry? To facilitate wide integration of the registry services with existing software and workflows for variant evaluation, e.g. Pathogenicity Calculator. All the functionalities of the registry are exposed via REST APIs. The API allows also for bulk query and registration of variants. Hundreds of variants saved as a VCF file or a list .PARSED CONTENT
The domain states the following, "What is the Allele Registry? To facilitate wide integration of the registry services with existing software and workflows for variant evaluation, e." We analyzed that the web site also stated " All the functionalities of the registry are exposed via REST APIs." It also stated " The API allows also for bulk query and registration of variants. Hundreds of variants saved as a VCF file or a list ."SEEK OTHER BUSINESSES
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