Allele Registry

Canonical Allele Identifier: PA2827783801

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002043796

ClinVar Variation:

1519829

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Asn1719Lys	CA349068416 NM_001353957.2:c.5157C>A CA349068418 NM_001353957.2:c.5157C>G