Canonical Allele Identifier: PA915988917
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 457143
ClinVar RCV Id: RCV000526694 RCV001834747
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Arg117Cys
CA9461092
NM_001164783.2:c.349C>T