Canonical Allele Identifier: PA2825039452
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2147982
ClinVar RCV Id: RCV003061178
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Tyr195Cys
CA142284038
NM_000056.5:c.584A>G