Allele Registry

Canonical Allele Identifier: PA2827754883

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002043796

ClinVar Variation:

1519829

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Asn1747Lys	CA349068416 NM_001353948.2:c.5241C>A CA349068418 NM_001353948.2:c.5241C>G