Allele Registry

Canonical Allele Identifier: PA2827754678

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180920

ClinVar Variation:

189966

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Asp1703Val	CA303433 NM_001353948.2:c.5108A>T