Allele Registry

Canonical Allele Identifier: PA2827788448

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059481

RCV000118240

RCV000189085

RCV000636276

ClinVar Variation:

68604

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Arg917Cys	CA269785 NM_001353960.2:c.2749C>T