Allele Registry

Canonical Allele Identifier: PA2827790363

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187787

ClinVar RCV:

RCV000180972

RCV002515213

ClinVar Variation:

190016

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Gly165Glu	CA303559 NM_001353961.2:c.494G>A