Allele Registry

Canonical Allele Identifier: PA2828499492

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000414301

RCV002523940

ClinVar Variation:

373210

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361239.1:p.Arg537Leu	CA16042750 NM_001374310.2:c.1610G>T