Canonical Allele Identifier: PA224345
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96610
ClinVar RCV Id: RCV000082769 RCV003522925
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Thr273Pro
CA224344
NM_000056.5:c.817A>C