Allele Registry

Canonical Allele Identifier: PA2827789733

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002043796

ClinVar Variation:

1519829

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Asn1718Lys	CA349068416 NM_001353960.2:c.5154C>A CA349068418 NM_001353960.2:c.5154C>G