Allele Registry

Canonical Allele Identifier: PA2827774297

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79522

ClinVar RCV:

RCV000059509

RCV000521069

RCV001067468

ClinVar Variation:

68630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Gly1422Glu	CA285162 NM_001353952.2:c.4265G>A