Canonical Allele Identifier: PA916024157
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 496569

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Gly65Arg
CA3902600
NM_001318975.1:c.193G>A
CA364660480
NM_001318975.1:c.193G>C