Allele Registry

Canonical Allele Identifier: PA2827776647

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188905

RCV001317116

ClinVar Variation:

206794

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Ala977Val	CA317339 NM_001353954.2:c.2930C>T