Allele Registry

Canonical Allele Identifier: PA2828361497

Gene: SCN8A HGNC NCBI

ClinVar Allele:

421936

ClinVar RCV:

RCV000494231

RCV002281575

RCV003588637

ClinVar Variation:

430208

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Thr1746Asn	CA384885535 NM_001369788.1:c.5237C>A