Canonical Allele Identifier: PA2828498189
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207431

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361237.1:p.Arg392Cys
CA318875
NM_001374308.2:c.1174C>T