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: PA2742003051

Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2870707

ClinVar RCV Id: RCV003632302

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Phe671Leu	CA410539783 NM_058175.3:c.2011T>C CA410539805 NM_058175.3:c.2013T>A CA410539809 NM_058175.3:c.2013T>G