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: PA2829707122

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 479204

ClinVar RCV Id: RCV000574073 RCV001077898 RCV001858075

ClinVar Variation Id: 825349

ClinVar RCV Id: RCV001023378 RCV001077899

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009229.2:p.Val561Leu	CA10591532 NM_007298.3:c.1681G>T CA10591533 NM_007298.3:c.1681G>C