Allele Registry

Canonical Allele Identifier: PA2827783819

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636358

RCV001956143

ClinVar Variation:

530478

1457986

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Gly1729Arg	CA349068320 NM_001353957.2:c.5185G>C CA349068321 NM_001353957.2:c.5185G>A