Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2829721000

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54765

ClinVar RCV Id: RCV000577564 RCV003157361

ClinVar Variation Id: 1727270

ClinVar RCV Id: RCV002319785 RCV003099168

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Ser1024Arg	CA002015 NM_007300.4:c.3072C>G CA058135 NM_007300.4:c.3072C>A CA10595848 NM_007300.4:c.3070A>C