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
XP_016861177.1:p.Glu2547Asp	CA352643265 XM_017005688.1:c.7641G>T CA352643269 XM_017005688.1:c.7641G>C