Canonical Allele Identifier: PA2828502328
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2055422
ClinVar RCV Id: RCV002947244

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Gly532Arg
CA374939824
NM_001374315.2:c.1594G>C