Canonical Allele Identifier: PA2828498196
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212327
ClinVar RCV Id: RCV000193990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361237.1:p.Tyr397His
CA207851
NM_001374308.2:c.1189T>C