Canonical Allele Identifier: PA2828497459
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 160070

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.His231Arg
CA173637
NM_001374307.2:c.692A>G