Allele Registry

Canonical Allele Identifier: PA2827782559

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059485

RCV000817420

RCV002247464

ClinVar Variation:

68608

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Met932Val	CA285108 NM_001353957.2:c.2794A>G