Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA915997269

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409347

ClinVar RCV Id: RCV000775172 RCV000462698 RCV001125930

ClinVar Variation Id: 630428

ClinVar RCV Id: RCV000775699 RCV001175005 RCV004001464

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Cys644Ser	CA057641 NM_007300.4:c.1930T>A CA10598163 NM_007300.4:c.1931G>C