omia.variant:1276

Genomic description: NC_006602.3:g.[40524302_40524308del;40524267_40524380dup]

Coding DNA description: NM_001002980.1:c.[2028_2034del;1993_2050+56dup]

Protein description: NP_001002980.1:p.(V677Sfs*11)

Gene: COL7A1

Phenes where this variant occurs: