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: PA2826652523

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142123

ClinVar RCV Id: RCV000130961 RCV000196594 RCV000212140 RCV000656773 RCV001357081

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269472.1:p.Gly604Glu	CA294262 NM_001282543.2:c.1811G>A