Allele Registry

Canonical Allele Identifier: PA2827765225

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79499

ClinVar RCV:

RCV000059484

RCV001387943

ClinVar Variation:

68607

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Cys948Arg	CA285105 NM_001353950.2:c.2842T>C