Canonical Allele Identifier: PA2828497540
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2554527
ClinVar RCV Id: RCV003308617
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.Met310Val
CA374935807
NM_001374307.2:c.928A>G