Allele Registry

Canonical Allele Identifier: PA2499244380

Gene: STXBP2 HGNC NCBI

ClinVar RCV:

RCV001298110

RCV002264259

ClinVar Variation:

1001770

HGVS (amino-acid)	Matching Registered Transcripts
NP_001258963.1:p.Arg246Gln	CA9143774 NM_001272034.2:c.737G>A