Canonical Allele Identifier: PA2828501775
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2795876
ClinVar RCV Id: RCV003753892
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Ala553Thr
CA374939511
NM_001374314.1:c.1657G>A