Allele Registry

Canonical Allele Identifier: PA303089

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180797

RCV002517630

ClinVar Variation:

189843

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Pro1440Thr	CA303087 NM_006920.6:c.4318C>A