Allele Registry

Canonical Allele Identifier: PA658809681

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000593278

RCV000636263

RCV000764281

ClinVar Variation:

498246

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Lys1996Asn	CA59797683 NM_001165963.4:c.5988A>C CA349063033 NM_001165963.4:c.5988A>T