Allele Registry

Canonical Allele Identifier: PA2826013968

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000578114

RCV002298690

ClinVar Variation:

488186

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Val1756Asp	CA349068040 NM_001165964.3:c.5267T>A