Canonical Allele Identifier: PA2828497766
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 984865

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.Cys538Arg
CA374939488
NM_001374307.2:c.1612T>C