Allele Registry

Canonical Allele Identifier: PA2828499758

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000436434

RCV001265299

RCV002283481

ClinVar Variation:

393116

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361240.1:p.Thr234Ile	CA16606218 NM_001374311.2:c.701C>T