Canonical Allele Identifier: PA2573172090
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1515342
ClinVar RCV Id: RCV002021020
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Ser337Arg
CA406013765
NM_000709.4:c.1009A>C
CA406013771
NM_000709.4:c.1011C>A
CA406013772
NM_000709.4:c.1011C>G