Allele Registry

Canonical Allele Identifier: PA2827777573

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059428

RCV000584823

RCV000636349

ClinVar Variation:

68554

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Asp1596Tyr	CA284982 NM_001353954.2:c.4786G>T