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: PA331824

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127745

ClinVar RCV Id: RCV000115641 RCV000205761 RCV000587339 RCV002465514

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000456.2:p.Gln237Glu	CA331823 NM_000465.4:c.709C>G