Canonical Allele Identifier: PA093388
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 11937
ClinVar RCV Id: RCV000056008 RCV000082754 RCV000589206 RCV002512989
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Arg183Pro
CA121789
NM_000056.5:c.548G>C