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: COL6A2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000312529.5:p.His100Gln	CA10071257 ENST00000310645.9:c.300C>G CA410520621 ENST00000310645.9:c.300C>A