Canonical Allele Identifier: PA2828497195
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207439

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Arg548Ser
CA318890
NM_001374306.2:c.1642C>A