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: PA116813

Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 4388

ClinVar RCV Id: RCV000004638 RCV000785598 RCV001214565 RCV002281695 RCV001291206

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_476517.1:p.Ile12Thr	CA116812 NM_057176.3:c.35T>C