Allele Registry

Canonical Allele Identifier: PA2827781567

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187863

ClinVar RCV:

RCV000180867

ClinVar Variation:

189915

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Ser243Tyr	CA303295 NM_001353957.2:c.728C>A