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
NP_476507.3:p.Asn2254Lys	CA351192045 NM_057166.5:c.6762C>G CA351192046 NM_057166.5:c.6762C>A