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
XP_016858793.1:p.Met1070Leu	CA351186136 XM_017003304.1:c.3208A>C CA351186137 XM_017003304.1:c.3208A>T