Canonical Allele Identifier: PA224260
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96570
ClinVar RCV Id: RCV000082728
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.His53Pro
CA224259
NM_000056.5:c.158A>C