Canonical Allele Identifier: PA2825039326
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 992182
ClinVar RCV Id: RCV001280516 RCV002480928
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Ala40Val
CA3902502
NM_000056.5:c.119C>T