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
ENSP00000315873.4:p.Ser2280Arg	CA351202851 ENST00000353578.9:c.6840T>G CA351202853 ENST00000353578.9:c.6840T>A CA351202870 ENST00000353578.9:c.6838A>C