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_016861178.1:p.Glu1816Asp	CA352672832 XM_017005689.1:c.5448A>T CA352672838 XM_017005689.1:c.5448A>C