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: PA2825128176

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 518512

ClinVar RCV Id: RCV000617811 RCV003767770

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Glu41Asp	CA352158708 NM_000335.5:c.123G>T CA352158714 NM_000335.5:c.123G>C