Allele Registry

Canonical Allele Identifier: PA2827760242

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180797

RCV002517630

ClinVar Variation:

189843

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Pro1440Thr	CA303087 NM_001353949.2:c.4318C>A