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: COL5A1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Asp1754Glu	CA375460633 NM_000093.5:c.5262C>G CA375460635 NM_000093.5:c.5262C>A