Allele Registry

Canonical Allele Identifier: PA317137

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201622

ClinVar RCV:

RCV000188835

RCV000500830

ClinVar Variation:

206740

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ser169Pro	CA317134 NM_006920.6:c.505T>C