Allele Registry

Canonical Allele Identifier: PA2828501522

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000414192

ClinVar Variation:

372603

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361243.1:p.His293Tyr	CA16042764 NM_001374314.1:c.877C>T