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 submissions, and is based on SCV accession.
clinvar.submission
Local identifiers in ClinVar Submission should match this
regular expression:
^SCV\d+(\.\d+)?$
Compact URIs (CURIEs) constructed from ClinVar Submission should match
this regular expression:
^clinvar\.submission:SCV\d+(\.\d+)?$
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.SUBMISSION
|
|
Identifiers.org | miriam |
clinvar.submission
|
|
N2T | n2t |
clinvar.submission
|
A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).
The local unique identifier SCV000151292
is used to demonstrate the providers
available for ClinVar Submission. A guide for curating additional providers can be found
here.
Name | Metaprefix | URI |
---|---|---|
ClinVar Submission | clinvar.submission |
http://www.ncbi.nlm.nih.gov/clinvar?term=SCV000151292 |
Bioregistry | bioregistry |
https://bioregistry.io/clinvar.submission:SCV000151292 |
Identifiers.org | miriam |
https://identifiers.org/clinvar.submission:SCV000151292 |
Name-to-Thing | n2t |
https://n2t.net/clinvar.submission:SCV000151292 |