Canonical Allele Identifier: PA2825039392
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1407094
ClinVar RCV Id: RCV001918259

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Gly131Val
CA364660459
NM_000056.5:c.392G>T