Allele Registry

Canonical Allele Identifier: PA2827783859

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000194223

RCV001192960

ClinVar Variation:

212119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Asn1751Ser	CA208252 NM_001353957.2:c.5252A>G