Allele Registry

Canonical Allele Identifier: PA2827292136

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000239751

RCV000493549

RCV002519872

RCV003335289

RCV003992247

ClinVar Variation:

253288

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Ile1327Val	CA10586295 NM_001330260.2:c.3979A>G