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: PA2573238019

Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1432633

ClinVar RCV Id: RCV001959912

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Val602Leu	CA351216737 NM_004369.4:c.1804G>T CA351216738 NM_004369.4:c.1804G>C