Allele Registry

Canonical Allele Identifier: PA285059

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79476

ClinVar RCV:

RCV000059460

RCV000808399

ClinVar Variation:

68584

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Arg322Ile	CA285057 NM_006920.6:c.965G>T