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: PA658654391

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 441344

ClinVar RCV Id: RCV000509680

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Asn1075Lys	CA058052 NM_007294.4:c.3225C>G CA10595531 NM_007294.4:c.3225C>A