Allele Registry

Canonical Allele Identifier: PA2827783751

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059441

ClinVar Variation:

68566

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Thr1693Arg	CA285009 NM_001353957.2:c.5078C>G