Allele Registry

Canonical Allele Identifier: PA2828361481

Gene: SCN8A HGNC NCBI

ClinVar Allele:

2477530

ClinVar RCV:

RCV003223477

ClinVar Variation:

2499548

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Ile1721Leu	CA384885184 NM_001369788.1:c.5161A>C