Allele Registry

Canonical Allele Identifier: PA2573205770

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002044256

ClinVar Variation:

1348315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Val932Leu	CA1942684 NM_001353961.2:c.2794G>C