Canonical Allele Identifier: PA221235
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93385
ClinVar RCV Id: RCV000179779 RCV000790719 RCV001275918
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Glu327Lys
CA221234
NM_000709.4:c.979G>A