Allele Registry

Canonical Allele Identifier: PA2827767916

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180878

RCV000188996

RCV002516537

ClinVar Variation:

189926

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Cys1730Tyr	CA303327 NM_001353950.2:c.5189G>A