Allele Registry

Canonical Allele Identifier: PA2827776322

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059466

RCV002514307

RCV003992173

ClinVar Variation:

68590

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Tyr778Cys	CA266101 NM_001353954.2:c.2333A>G