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: PA291760

Gene: KCNJ5 HGNC NCBI

Linked Data

ClinVar Variation Id: 137993

ClinVar RCV Id: RCV000126424 RCV000291702 RCV000381382 RCV000622178 RCV000860164 RCV001730572 RCV003891662

ClinVar Variation Id: 412766

ClinVar RCV Id: RCV001495213

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000881.3:p.Gln282Glu	CA291758 NM_000890.5:c.844C>G CA16613481 NM_000890.5:c.843_844delinsTG