Allele Registry

Canonical Allele Identifier: PA2827790701

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000484175

RCV001057823

ClinVar Variation:

195945

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Pro1041Ser	CA242660 NM_001353961.2:c.3121C>T