Allele Registry

Canonical Allele Identifier: PA2827786749

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188995

RCV000781836

RCV001210054

RCV002336501

ClinVar Variation:

206861

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Asp1712Asn	CA317589 NM_001353958.2:c.5134G>A