Allele Registry

Canonical Allele Identifier: PA2828501453

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000180590

RCV000504117

RCV000779652

RCV000796167

RCV001258012

RCV001265518

ClinVar Variation:

199083

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361243.1:p.Arg235Gln	CA303075 NM_001374314.1:c.704G>A