Allele Registry

Canonical Allele Identifier: PA2827783083

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636368

RCV001333849

RCV001731191

RCV003488746

ClinVar Variation:

530487

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Ser1318Pro	CA349050752 NM_001353957.2:c.3952T>C