Canonical Allele Identifier: PA915988951
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93371

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Ala254Asp
CA221213
NM_001164783.2:c.761C>A