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
ENSP00000418285.1:p.Met2044Ile	CA2187653 ENST00000472056.5:c.6132G>A CA351197120 ENST00000472056.5:c.6132G>T CA351197121 ENST00000472056.5:c.6132G>C