Canonical Allele Identifier: PA2826004231
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93385
ClinVar RCV Id: RCV000179779 RCV000790719 RCV001275918
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Glu326Lys
CA221234
NM_001164783.2:c.976G>A