Allele Registry

Canonical Allele Identifier: PA2826130689

Gene: SCN8A HGNC NCBI

ClinVar Allele:

2477530

ClinVar RCV:

RCV003223477

ClinVar Variation:

2499548

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171455.1:p.Ile1721Leu	CA384885184 NM_001177984.2:c.5161A>C