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: PA2826653034

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 481365

ClinVar RCV Id: RCV000574166 RCV001366906 RCV002473063

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269472.1:p.Met749Ile	CA298440 NM_001282543.2:c.2247G>C CA64792574 NM_001282543.2:c.2247G>A CA350449776 NM_001282543.2:c.2247G>T