Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: COL6A3 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000418285.1:p.Ser792Arg	CA2188977 ENST00000472056.5:c.2376C>A CA351196565 ENST00000472056.5:c.2376C>G CA351196581 ENST00000472056.5:c.2374A>C