Canonical Allele Identifier: PA2827026582
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2798369
ClinVar RCV Id: RCV003636366
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Arg100_Ser101del
CA2739273285
NM_001318975.1:c.298_303del