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.Asn2198Lys	CA351194630 NM_057166.5:c.6594C>G CA351194638 NM_057166.5:c.6594C>A