Allele Registry

Canonical Allele Identifier: PA2580370671

Gene: SCN8A HGNC NCBI

ClinVar Allele:

2477530

ClinVar RCV:

RCV003223477

ClinVar Variation:

2499548

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Ile1762Leu	CA384885184 NM_014191.4:c.5284A>C