Allele Registry

Canonical Allele Identifier: PA2827786688

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000013754

RCV000013755

RCV001296128

ClinVar Variation:

12894

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Thr1681Ile	CA256611 NM_001353958.2:c.5042C>T