Canonical Allele Identifier: PA224278
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96582

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Thr122Ile
CA224277
NM_000056.5:c.365C>T