Canonical Allele Identifier: PA224313
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96594
ClinVar RCV Id: RCV000082752 RCV002483156
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Cys177Arg
CA224312
NM_000056.5:c.529T>C