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: PA1139693370

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 978478

ClinVar RCV Id: RCV001257155

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269478.1:p.Cys71Tyr	CA350462134 NM_001282549.2:c.212G>A