Allele Registry

Canonical Allele Identifier: PA285260

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79565

3224462

ClinVar RCV:

RCV000059553

RCV000678837

RCV003992852

ClinVar Variation:

68673

3067163

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ser259Arg	CA285258 NM_006920.6:c.777C>A CA349073448 NM_006920.6:c.777C>G CA349073464 NM_006920.6:c.775A>C