Canonical Allele Identifier: PA2828501590
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2769274
ClinVar RCV Id: RCV003591009

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Asp371Tyr
CA374936694
NM_001374314.1:c.1111G>T