Allele Registry

Canonical Allele Identifier: PA2828496892

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000436434

RCV001265299

RCV002283481

ClinVar Variation:

393116

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Thr245Ile	CA16606218 NM_001374306.2:c.734C>T