Canonical Allele Identifier: PA224366
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96622
ClinVar RCV Id: RCV000346636 RCV000790833
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Leu325Arg
CA224365
NM_000056.5:c.974T>G