Canonical Allele Identifier: PA2828497615
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212327
ClinVar RCV Id: RCV000193990
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.Tyr397His
CA207851
NM_001374307.2:c.1189T>C