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
ENSP00000295550.4:p.Phe1748Leu	CA2188713 ENST00000295550.9:c.5244T>A CA351187883 ENST00000295550.9:c.5244T>G CA351187888 ENST00000295550.9:c.5242T>C