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) Matching Registered Transcripts
ENSP00000506558.1:p.Gly1848Arg
CA352671078
ENST00000681320.1:c.5542G>C
CA352671100
ENST00000681320.1:c.5542G>A