Canonical Allele Identifier: PA224267
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96576
ClinVar RCV Id: RCV000177427 RCV001162146
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Gly101Asp
CA224266
NM_000056.5:c.302G>A