Allele Registry

Canonical Allele Identifier: PA2827784751

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000414158

RCV000728727

ClinVar Variation:

372950

593630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Ser364Arg	CA1943364 NM_001353958.2:c.1092C>A CA16042445 NM_001353958.2:c.1090A>C CA349071265 NM_001353958.2:c.1092C>G