Canonical Allele Identifier: PA2828502306
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1212923
ClinVar RCV Id: RCV001586570 RCV003152767 RCV004546667
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Cys516Tyr
CA374939495
NM_001374315.2:c.1547G>A