Allele Registry

Canonical Allele Identifier: PA2827776554

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059479

RCV000636356

ClinVar Variation:

68602

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Val932Ala	CA285093 NM_001353954.2:c.2795T>C