Allele Registry

Canonical Allele Identifier: PA303090

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180797

RCV002517630

ClinVar Variation:

189843

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Pro1451Thr	CA303087 NM_001165963.4:c.4351C>A