Canonical Allele Identifier: PA2825039585
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 553268
ClinVar RCV Id: RCV000668675
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Tyr383Ter
CA917790324
NM_000056.5:c.1148dup