Canonical Allele Identifier: PA2825039590
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1920771
ClinVar RCV Id: RCV002604247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Lys388Glu
CA365021623
NM_000056.5:c.1162A>G