Allele Registry

Canonical Allele Identifier: PA2827789080

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000725944

RCV000794768

RCV002317815

ClinVar Variation:

287064

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Ile1348Val	CA1942836 NM_001353960.2:c.4042A>G