Allele Registry

Canonical Allele Identifier: PA2828500604

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000414301

RCV002523940

ClinVar Variation:

373210

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361241.1:p.Arg537Leu	CA16042750 NM_001374312.2:c.1610G>T