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: PA916012198

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 664289

ClinVar RCV Id: RCV000822358 RCV003444110

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Leu1648Phe	CA384880625 NM_014191.4:c.4944G>C CA384880628 NM_014191.4:c.4944G>T