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: PA2826655945

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 628819

ClinVar RCV Id: RCV000773482 RCV001049671

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269478.1:p.Ser264_Ter265insSerIleLeuTyrGlnMetAsnIleSerAsn	CA350449604 NM_001282549.2:c.794G>C