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: PA1139736487

Gene: COQ8A HGNC NCBI

Linked Data

ClinVar Variation Id: 861521

ClinVar RCV Id: RCV001068067

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_064632.2:p.Phe480Leu	CA1425493 NM_020247.5:c.1440C>G CA345055653 NM_020247.5:c.1438T>C CA345055662 NM_020247.5:c.1440C>A