Canonical Allele Identifier: PA115509
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2377
ClinVar RCV Id: RCV000179775 RCV000790729 RCV001175041
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Gly289Arg
CA115508
NM_001164783.2:c.865G>A
CA9461293
NM_001164783.2:c.865G>C