Canonical Allele Identifier: PA224290
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96586
ClinVar RCV Id: RCV000082744 RCV000818306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Arg168Cys
CA224289
NM_000056.5:c.502C>T