Allele Registry

Canonical Allele Identifier: PA2828496947

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000414192

ClinVar Variation:

372603

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.His290Tyr	CA16042764 NM_001374306.2:c.868C>T