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_011531639.1:p.Val2630Leu	CA352641633 XM_011533337.1:c.7888G>T CA352641634 XM_011533337.1:c.7888G>C