Allele Registry

Canonical Allele Identifier: PA2827753352

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000493143

RCV001851360

ClinVar Variation:

430089

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Asn1378Thr	CA349050334 NM_001353948.2:c.4133A>C