Allele Registry

Canonical Allele Identifier: PA2828500183

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV001036492

ClinVar Variation:

835576

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361241.1:p.Arg108Gly	CA374932306 NM_001374312.2:c.322C>G