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: PA2830148914

Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3002447

ClinVar RCV Id: RCV003865574

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Lys379Asn	CA351217053 NM_057167.4:c.1137G>T CA351217055 NM_057167.4:c.1137G>C