Allele Registry

Canonical Allele Identifier: PA2827291287

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000724469

RCV001083161

RCV002317003

RCV004537365

ClinVar Variation:

194088

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Ala607Thr	CA239893 NM_001330260.2:c.1819G>A