Allele Registry

Canonical Allele Identifier: PA108389

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000013754

RCV000013755

RCV001296128

ClinVar Variation:

12894

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Thr1709Ile	CA256611 NM_001165963.4:c.5126C>T