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: PA645473912

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237847

ClinVar RCV Id: RCV000226580 RCV001019515

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000456.2:p.Gly320Arg	CA10581934 NM_000465.4:c.958G>A CA350454733 NM_000465.4:c.958G>C