Allele Registry

Canonical Allele Identifier: PA2827770204

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180966

ClinVar Variation:

190010

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Pro657Leu	CA303541 NM_001353951.2:c.1970C>T