Allele Registry

Canonical Allele Identifier: PA2826013851

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000554528

ClinVar Variation:

461279

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Ser1695Pro	CA349068817 NM_001165964.3:c.5083T>C