Allele Registry

Canonical Allele Identifier: PA2828500038

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000500216

RCV001241309

RCV002317656

ClinVar Variation:

207438

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361240.1:p.Arg522His	CA318888 NM_001374311.2:c.1565G>A