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: COL6A1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000483630.1:p.Asp328Glu	CA410522695 ENST00000612273.1:c.984C>G CA410522697 ENST00000612273.1:c.984C>A