Allele Registry

Canonical Allele Identifier: PA2827777828

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188995

RCV000781836

RCV001210054

RCV002336501

ClinVar Variation:

206861

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Asp1728Asn	CA317589 NM_001353954.2:c.5182G>A