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: PA2827280636

Gene: KIAA0586 HGNC NCBI

Linked Data

ClinVar Variation Id: 798228

ClinVar RCV Id: RCV001473266 RCV003953379

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001316876.1:p.Phe250Leu	CA7205464 NM_001329947.2:c.750T>A CA389862824 NM_001329947.2:c.748T>C CA389862842 NM_001329947.2:c.750T>G