Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2826130102

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1721803

ClinVar RCV Id: RCV002302191

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171455.1:p.Met994Ile	CA384892036 NM_001177984.2:c.2982G>A CA384892037 NM_001177984.2:c.2982G>C CA384892038 NM_001177984.2:c.2982G>T