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
NP_000085.1:p.Pro2468Leu
NM_000094.4:c.7403C>T