Allele Registry

Canonical Allele Identifier: PA2827789031

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000013745

RCV000059409

RCV003992150

ClinVar Variation:

12885

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Val1324Leu	CA256593 NM_001353960.2:c.3970G>C