Allele Registry

Canonical Allele Identifier: PA285062

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059461

RCV001390614

RCV002381374

ClinVar Variation:

68585

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Gly343Asp	CA285060 NM_006920.6:c.1028G>A