Allele Registry

Canonical Allele Identifier: PA2827770743

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000724139

RCV000795103

ClinVar Variation:

194616

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Asp1048Val	CA240690 NM_001353951.2:c.3143A>T