Canonical Allele Identifier: PA2828501907
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802509
ClinVar RCV Id: RCV000988250

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Ala102del
CA915947151
NM_001374315.2:c.303_305del