Data collection: ClinVar Record

gene phenotype human

General information

Recommended name ClinVar Record
Description ClinVar archives reports of relationships among medically important variants and phenotypes. It records human variation, interpretations of the relationship specific variations to human health, and supporting evidence for each interpretation. Each ClinVar record (RCV identifier) represents an aggregated view of interpretations of the same variation and condition from one or more submitters. Submissions for individual variation/phenotype combinations (SCV identifier) are also collected and made available separately. This collection references the Record Report, based on RCV accession.
Identifier pattern^RCV\d+(\.\d+)?$
Registry identifierMIR:00000534

Identification schemes

Namespace clinvar.record
URI http://identifiers.org/clinvar.record/
Alternative URI schemes  

Physical locations (resources)

Resource
MIR:00100710
Description ClinVar Record at NCBI
Access URLs HTML   (using the example identifier: RCV000033555.3)
Institution National Center for Biotechnology Information (NCBI), NIH, Maryland, USA
Website http://www.ncbi.nlm.nih.gov/clinvar/

References