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.Ser2258Arg	CA351192020 NM_057166.5:c.6774T>G CA351192021 NM_057166.5:c.6774T>A CA351192025 NM_057166.5:c.6772A>C