Allele Registry

Canonical Allele Identifier: PA2826260569

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000578114

RCV002298690

ClinVar Variation:

488186

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Val1784Asp	CA349068040 NM_001202435.3:c.5351T>A