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
ENSP00000395751.1:p.Asn193Lys	CA410538809 ENST00000413758.1:c.579C>G CA410538810 ENST00000413758.1:c.579C>A