Canonical Allele Identifier: PA2828499881
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2769274
ClinVar RCV Id: RCV003591009

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Asp357Tyr
CA374936694
NM_001374311.2:c.1069G>T