Allele Registry

Canonical Allele Identifier: PA303329

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180878

RCV000188996

RCV002516537

ClinVar Variation:

189926

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Cys1730Tyr	CA303327 NM_006920.6:c.5189G>A