Allele Registry

Canonical Allele Identifier: PA2828361387

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000485665

RCV004555864

ClinVar Variation:

421047

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Arg1597His	CA16619564 NM_001369788.1:c.4790G>A