Allele Registry

Canonical Allele Identifier: PA2828502302

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000414301

RCV002523940

ClinVar Variation:

373210

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361244.1:p.Arg515Leu	CA16042750 NM_001374315.2:c.1544G>T