Canonical Allele Identifier: PA2580125965
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2189612
ClinVar RCV Id: RCV002636845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Arg399Gln
CA9461403
NM_000709.4:c.1196G>A