Allele Registry

Canonical Allele Identifier: PA2827786820

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000194223

RCV001192960

ClinVar Variation:

212119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Asn1751Ser	CA208252 NM_001353958.2:c.5252A>G