Canonical Allele Identifier: PA224251
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96568
ClinVar RCV Id: RCV000082725 RCV000811483
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Tyr363Asn
CA224250
NM_000056.5:c.1087T>A