Allele Registry

Canonical Allele Identifier: PA2827788088

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000430819

RCV001043886

ClinVar Variation:

282982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Glu657Ala	CA1943194 NM_001353960.2:c.1970A>C