Canonical Allele Identifier: PA2828501456
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 450327
ClinVar RCV Id: RCV000519228

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Gly236Asp
CA374933892
NM_001374314.1:c.707G>A