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: PA2830344748

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2584390

ClinVar RCV Id: RCV003335838 RCV003588892 RCV003886622

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Gly313Arg	CA409652321 NM_172106.3:c.937G>A CA409652323 NM_172106.3:c.937G>C