Allele Registry

Canonical Allele Identifier: PA317591

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188995

RCV000781836

RCV001210054

RCV002336501

ClinVar Variation:

206861

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Asp1729Asn	CA317589 NM_006920.6:c.5185G>A