Canonical Allele Identifier: PA645419598
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 429468
ClinVar RCV Id: RCV000493769
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Gly187Asp
CA364657860
NM_183050.3:c.560G>A