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: PA2580230651

Gene: KCNJ5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1751924

ClinVar RCV Id: RCV002353631

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341098.1:p.Asn205Lys	CA383249344 NM_001354169.2:c.615C>G CA383249346 NM_001354169.2:c.615C>A