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: PA2830148153

Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289363

ClinVar RCV Id: RCV000321712

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val1887Leu	CA10606424 NM_057166.5:c.5659G>T CA351202707 NM_057166.5:c.5659G>C