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

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000332371.8:p.Arg1482Pro
ENST00000328333.12:c.[4444dup;4448del]

ENST00000328333.12:c.4445G>C