Allele Registry

Canonical Allele Identifier: PA2828500690

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000334893

RCV000792098

RCV001265295

ClinVar Variation:

280467

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Ser42Pro	CA10603014 NM_001374313.2:c.124T>C