Canonical Allele Identifier: PA916024167
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_001305904.1:p.Tyr99Cys
CA224292
NM_001318975.1:c.296A>G