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: PA2826651598

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 479143

ClinVar RCV Id: RCV000562704 RCV000690479

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269472.1:p.Pro334Ser	CA350454142 NM_001282543.2:c.1000C>T