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.Val2730Leu	CA351191479 ENST00000353578.9:c.8188G>T CA351191481 ENST00000353578.9:c.8188G>C