Allele Registry

Canonical Allele Identifier: PA2828360584

Gene: SCN8A HGNC NCBI

ClinVar Allele:

191251

ClinVar RCV:

RCV000724469

RCV001083161

RCV002317003

RCV004537365

ClinVar Variation:

194088

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Ala607Thr	CA239893 NM_001369788.1:c.1819G>A