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: PA2826655429

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 233920

ClinVar RCV Id: RCV000217587 RCV001050707

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269478.1:p.His116Arg	CA2090451 NM_001282549.2:c.347A>G