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: PA2741843218

Gene: KCNJ13 HGNC NCBI

Linked Data

ClinVar Variation Id: 3012727

ClinVar RCV Id: RCV003877838

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165888.1:p.Phe46Leu	CA351013391 NM_001172417.1:c.138C>G CA351013392 NM_001172417.1:c.138C>A CA351013400 NM_001172417.1:c.136T>C