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: PA2499277981

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1016014

ClinVar RCV Id: RCV001314955 RCV003147611 RCV003147608 RCV003147609 RCV003147610

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Asn995Lys	CA384892045 NM_014191.4:c.2985C>A CA384892046 NM_014191.4:c.2985C>G