Allele Registry

Canonical Allele Identifier: PA240692

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000724139

RCV000795103

ClinVar Variation:

194616

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Asp1048Val	CA240690 NM_006920.6:c.3143A>T