Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA645449222

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1339139

ClinVar RCV Id: RCV001823593 RCV003753211

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Gln1020His	CA10641732 NM_014191.4:c.3060G>C CA384892233 NM_014191.4:c.3060G>T