Canonical Allele Identifier: PA2826004243
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93336

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Arg345His
CA221177
NM_001164783.2:c.1034G>A