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_016861178.1:p.Asp1849Glu	CA352670973 XM_017005689.1:c.5547C>G CA352670982 XM_017005689.1:c.5547C>A