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
XP_016869755.1:p.Asp413Glu	CA375450880 XM_017014266.2:c.1239C>G CA375450883 XM_017014266.2:c.1239C>A