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.

Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in ClinVar Record should match this regular expression:

Example Local Unique Identifier
RCV000033555.3   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from ClinVar Record should match this regular expression:

Example CURIE

A summary of the relations in the Bioregistry schema can be found here.

Part Of (bfo:0000050 )
Metaregistry ClinVar Record

The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for this resource with 1 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
BioContext biocontext CLINVAR.RECORD logo miriam clinvar.record
N2T Name-to-Thing logo n2t clinvar.record

Providers are various services that resolve CURIEs to URLs. The example CURIE clinvar.record:RCV000033555.3 is used to demonstrate the provides available for this resource. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URI
ClinVar Record clinvar.record
Bioregistry bioregistry miriam
Name-to-Thing n2t