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: COL7A1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000506558.1:p.Asp1759Glu	CA352676420 ENST00000681320.1:c.5277C>G CA352676423 ENST00000681320.1:c.5277C>A