Allele Registry

Canonical Allele Identifier: PA2827775507

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059548

RCV001854248

ClinVar Variation:

68668

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Trp190Arg	CA285246 NM_001353954.2:c.568T>C CA349075387 NM_001353954.2:c.568T>A