Allele Registry

Canonical Allele Identifier: PA2827773690

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000462390

RCV000585632

ClinVar Variation:

194617

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.His1009Gln	CA240694 NM_001353952.2:c.3027C>A CA349060180 NM_001353952.2:c.3027C>G