Canonical Allele Identifier: PA2828497332
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1512107

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.Cys96Arg
CA374932148
NM_001374307.2:c.286T>C