Allele Registry

Canonical Allele Identifier: PA2827789552

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79451

ClinVar RCV:

RCV000059434

RCV001003955

RCV001229900

ClinVar Variation:

68559

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Arg1628His	CA145256 NM_001353960.2:c.4883G>A