Allele Registry

Canonical Allele Identifier: PA2827779185

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000430819

RCV001043886

ClinVar Variation:

282982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Glu674Ala	CA1943194 NM_001353955.2:c.2021A>C