Allele Registry

Canonical Allele Identifier: PA2827779588

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79500

ClinVar RCV:

RCV000059485

RCV000817420

RCV002247464

ClinVar Variation:

68608

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Met948Val	CA285108 NM_001353955.2:c.2842A>G