Canonical Allele Identifier: PA2826004239
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2142610
ClinVar RCV Id: RCV003062657
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Ala343Val
CA9461359
NM_001164783.2:c.1028C>T