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_011531643.1:p.Thr2092Ser	CA352662255 XM_011533341.1:c.6275C>G CA352662264 XM_011533341.1:c.6274A>T