Allele Registry

Canonical Allele Identifier: PA645402914

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000414158

RCV000728727

ClinVar Variation:

372950

593630

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ser364Arg	CA1943364 NM_006920.6:c.1092C>A CA16042445 NM_006920.6:c.1090A>C CA349071265 NM_006920.6:c.1092C>G