Canonical Allele Identifier: PA2828498948
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 941295
ClinVar RCV Id: RCV001211052

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Ile553Thr
CA374939797
NM_001374309.2:c.1658T>C