Allele Registry

Canonical Allele Identifier: PA318889

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000500216

RCV001241309

RCV002317656

ClinVar Variation:

207438

HGVS (amino-acid)	Matching Registered Transcripts
NP_003156.1:p.Arg536His	CA318888 NM_003165.6:c.1607G>A