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: PA221183

Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93344

ClinVar RCV Id: RCV000180522 RCV000790815 RCV000853374 RCV002514392

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Val412Met	CA221182 NM_000709.4:c.1234G>A