Canonical Allele Identifier: PA2828497768
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2795876
ClinVar RCV Id: RCV003753892

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.Ala539Thr
CA374939511
NM_001374307.2:c.1615G>A