Canonical Allele Identifier: PA2828499052
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802509
ClinVar RCV Id: RCV000988250
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361239.1:p.Ala88del
CA915947151
NM_001374310.2:c.261_263del