Canonical Allele Identifier: PA224257
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96569
ClinVar RCV Id: RCV000082727
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Tyr383Asp
CA224256
NM_000056.5:c.1147T>G