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: PA2573090451

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1320497

ClinVar RCV Id: RCV001776476

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Glu1804Asp	CA236327630 NM_014191.4:c.5412G>C CA384885973 NM_014191.4:c.5412G>T