Allele Registry

Canonical Allele Identifier: PA2826260448

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059441

ClinVar Variation:

68566

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Thr1721Arg	CA285009 NM_001202435.3:c.5162C>G