Allele Registry

Canonical Allele Identifier: PA2828497115

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV003027677

ClinVar Variation:

2117316

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Glu467Lys	CA374937819 NM_001374306.2:c.1399G>A