Canonical Allele Identifier: PA2827026784
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_001305904.1:p.Lys318Glu
CA365021623
NM_001318975.1:c.952A>G