Allele Registry

Canonical Allele Identifier: PA2827775504

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000013744

RCV000059448

RCV000636336

ClinVar Variation:

12884

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Asp188Val	CA256590 NM_001353954.2:c.563A>T