Allele Registry

Canonical Allele Identifier: PA2827749248

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059399

RCV000357692

RCV000541714

RCV001199316

ClinVar Variation:

68527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Arg101Trp	CA284919 NM_001353948.2:c.301C>T