Allele Registry

Canonical Allele Identifier: PA2827781201

Gene: SCN1A HGNC NCBI

ClinVar Allele:

489670

ClinVar RCV:

RCV000593278

RCV000636263

RCV000764281

ClinVar Variation:

498246

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Lys1984Asn	CA59797683 NM_001353955.2:c.5952A>C CA349063033 NM_001353955.2:c.5952A>T