Allele Registry

Canonical Allele Identifier: PA2828502296

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000430934

RCV001265344

ClinVar Variation:

389269

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361244.1:p.Asn512Asp	CA16605477 NM_001374315.2:c.1534A>G