Allele Registry

Canonical Allele Identifier: PA2827788518

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059486

RCV000519810

ClinVar Variation:

68609

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Gly950Arg	CA285111 NM_001353960.2:c.2848G>A CA349060767 NM_001353960.2:c.2848G>C