Allele Registry

Canonical Allele Identifier: PA2827751092

Gene: SCN1A HGNC NCBI

ClinVar Allele:

191002

ClinVar RCV:

RCV000303863

RCV000358377

RCV000724592

RCV001132418

RCV001244014

ClinVar Variation:

193839

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Arg630Gln	CA239508 NM_001353948.2:c.1889G>A