Allele Registry

Canonical Allele Identifier: PA2828501171

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000500216

RCV001241309

RCV002317656

ClinVar Variation:

207438

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Arg536His	CA318888 NM_001374313.2:c.1607G>A