Allele Registry

Canonical Allele Identifier: PA2827767911

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188995

RCV000781836

RCV001210054

RCV002336501

ClinVar Variation:

206861

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Asp1729Asn	CA317589 NM_001353950.2:c.5185G>A