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
ENSP00000386844.1:p.Val396Leu	CA351216737 ENST00000409809.5:c.1186G>T CA351216738 ENST00000409809.5:c.1186G>C