Allele Registry

Canonical Allele Identifier: PA3057575600

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000417033

RCV001268795

ClinVar Variation:

375520

HGVS (amino-acid)	Matching Registered Transcripts
NP_003156.1:p.Ile19_Lys20delinsMet	CA16044321 NM_003165.6:c.57_59del