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: PA2829705386

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 999083

ClinVar RCV Id: RCV001295033 RCV003462855

ClinVar Variation Id: 2731680

ClinVar RCV Id: RCV003530888

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Lys1406Asn	CA10593284 NM_007300.4:c.4218G>T CA10593285 NM_007300.4:c.4218G>C