Canonical Allele Identifier: PA2828499349
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064621
ClinVar RCV Id: RCV001726526

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361239.1:p.Gly403Arg
CA374937186
NM_001374310.2:c.1207G>C