Canonical Allele Identifier: PA224293
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96587
ClinVar RCV Id: RCV000082745 RCV001040696 RCV001831889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Tyr169Cys
CA224292
NM_000056.5:c.506A>G