Canonical Allele Identifier: PA224346
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_898871.1:p.Thr273Pro
CA224344
NM_183050.3:c.817A>C