Allele Registry

Canonical Allele Identifier: PA2827790223

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000530855

ClinVar Variation:

461256

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Leu76Pro	CA349061630 NM_001353961.2:c.227T>C