Allele Registry

Canonical Allele Identifier: PA2827757785

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000430819

RCV001043886

ClinVar Variation:

282982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Glu675Ala	CA1943194 NM_001353949.2:c.2024A>C