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
ENSP00000481360.1:p.Gln127His
CA375442885
ENST00000618395.4:c.381G>C
CA375442886
ENST00000618395.4:c.381G>T