Canonical Allele Identifier: PA2825039393
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 857327
ClinVar RCV Id: RCV001062973

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Gly133Glu
CA364660471
NM_000056.5:c.398G>A