Allele Registry

Canonical Allele Identifier: PA2827789791

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000194223

RCV001192960

ClinVar Variation:

212119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Asn1750Ser	CA208252 NM_001353960.2:c.5249A>G