Canonical Allele Identifier: PA2828502326
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1691005

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Leu530Pro
CA374939781
NM_001374315.2:c.1589T>C