Allele Registry

Canonical Allele Identifier: PA2827786761

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002044256

ClinVar Variation:

1348315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Val1718Leu	CA1942684 NM_001353958.2:c.5152G>C