Canonical Allele Identifier: PA2825039592
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 426394

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Ile390Val
CA3902860
NM_000056.5:c.1168A>G