Allele Registry

Canonical Allele Identifier: PA2827781765

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180825

RCV003326125

ClinVar Variation:

189872

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Pro358Ser	CA303166 NM_001353957.2:c.1072C>T