Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA1139693500

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 954288

ClinVar RCV Id: RCV001226723

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269478.1:p.Lys96Arg	CA350461051 NM_001282549.2:c.287A>G