Allele Registry

Canonical Allele Identifier: PA2828498634

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000444312

ClinVar Variation:

393201

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361238.1:p.Leu242Pro	CA16605551 NM_001374309.2:c.725T>C