Allele Registry

Canonical Allele Identifier: PA2828502057

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000444312

ClinVar Variation:

393201

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361244.1:p.Leu256Pro	CA16605551 NM_001374315.2:c.767T>C