Allele Registry

Canonical Allele Identifier: PA2828496826

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000007119

RCV002311507

ClinVar Variation:

6727

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Cys177Tyr	CA118450 NM_001374306.2:c.530G>A