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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Asp1754Glu
CA375460633
NM_001278074.1:c.5262C>G
CA375460635
NM_001278074.1:c.5262C>A