Canonical Allele Identifier: PA2573183040
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1444208
ClinVar RCV Id: RCV001955851
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Arg124Pro
CA406006091
NM_001164783.2:c.371G>C