Allele Registry

Canonical Allele Identifier: PA303543

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187820

ClinVar RCV:

RCV000180966

ClinVar Variation:

190010

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Pro657Leu	CA303541 NM_001165963.4:c.1970C>T