Allele Registry

Canonical Allele Identifier: PA2827753111

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000781833

RCV001054959

ClinVar Variation:

633407

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Pro1323Leu	CA349053029 NM_001353948.2:c.3968C>T