Allele Registry

Canonical Allele Identifier: PA2827775043

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000484175

RCV001057823

ClinVar Variation:

195945

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Pro1844Ser	CA242660 NM_001353952.2:c.5530C>T