Canonical Allele Identifier: PA2825241772
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 3232228
ClinVar RCV Id: RCV004520911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Gly281Ser
CA9461270
NM_000709.4:c.841G>A