Canonical Allele Identifier: PA224239
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96564
ClinVar RCV Id: RCV000173927 RCV000790712 RCV001831887
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Cys349Tyr
CA224238
NM_000056.5:c.1046G>A