Allele Registry

Canonical Allele Identifier: PA2828500119

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000334893

RCV000792098

RCV001265295

ClinVar Variation:

280467

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361241.1:p.Ser28Pro	CA10603014 NM_001374312.2:c.82T>C