Canonical Allele Identifier: PA2825039594
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2159309

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Tyr392Cys
CA3902863
NM_000056.5:c.1175A>G