Allele Registry

Canonical Allele Identifier: PA2827789658

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000013754

RCV000013755

RCV001296128

ClinVar Variation:

12894

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Thr1680Ile	CA256611 NM_001353960.2:c.5039C>T