Allele Registry

Canonical Allele Identifier: PA2827786352

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201482

1431892

ClinVar RCV:

RCV000188960

RCV001999963

RCV003588594

ClinVar Variation:

206836

1452748

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Gly1487Arg	CA317489 NM_001353958.2:c.4459G>A CA349048633 NM_001353958.2:c.4459G>C