Allele Registry

Canonical Allele Identifier: PA2827761567

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000578114

RCV002298690

ClinVar Variation:

488186

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Val1773Asp	CA349068040 NM_001353949.2:c.5318T>A