Allele Registry

Canonical Allele Identifier: PA2828496773

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV001036492

ClinVar Variation:

835576

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Arg119Gly	CA374932306 NM_001374306.2:c.355C>G