Allele Registry

Canonical Allele Identifier: PA2828498096

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000414192

ClinVar Variation:

372603

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361237.1:p.His279Tyr	CA16042764 NM_001374308.2:c.835C>T