Allele Registry

Canonical Allele Identifier: PA2827786942

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059544

RCV000180879

RCV001854247

ClinVar Variation:

68664

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Met1824Thr	CA266129 NM_001353958.2:c.5471T>C