Allele Registry

Canonical Allele Identifier: PA2827783757

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000554528

ClinVar Variation:

461279

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Ser1695Pro	CA349068817 NM_001353957.2:c.5083T>C