Canonical Allele Identifier: PA110269
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2377
ClinVar RCV Id: RCV000179775 RCV000790729 RCV001175041
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Gly290Arg
CA115508
NM_000709.4:c.868G>A
CA9461293
NM_000709.4:c.868G>C