Allele Registry

Canonical Allele Identifier: PA2827783862

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV001195896

RCV001863098

ClinVar Variation:

930321

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Tyr1753His	CA349068092 NM_001353957.2:c.5257T>C