Allele Registry

Canonical Allele Identifier: PA2827787468

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180824

RCV000428290

ClinVar Variation:

189871

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Lys225Asn	CA303162 NM_001353960.2:c.675G>C CA349074093 NM_001353960.2:c.675G>T