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_011531642.1:p.Glu2071Asp	CA352662692 XM_011533340.1:c.6213A>T CA352662696 XM_011533340.1:c.6213A>C