Canonical Allele Identifier: PA658717941
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 496569

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Gly135Arg
CA3902600
NM_183050.3:c.403G>A
CA364660480
NM_183050.3:c.403G>C