Canonical Allele Identifier: PA2828499749
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1184882
ClinVar RCV Id: RCV001543451
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Ser227Tyr
CA374933977
NM_001374311.2:c.680C>A