Canonical Allele Identifier: PA224279
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96582

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Thr122Ile
CA224277
NM_183050.3:c.365C>T