Canonical Allele Identifier: PA2825039440
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 527135
ClinVar RCV Id: RCV000631894 RCV002265827
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Arg183Gln
CA142284037
NM_000056.5:c.548G>A