Allele Registry

Canonical Allele Identifier: PA2827772485

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188835

RCV000500830

ClinVar Variation:

206740

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Ser169Pro	CA317134 NM_001353952.2:c.505T>C