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
ENSP00000360885.4:p.Gln113His
CA375442654
ENST00000371820.4:c.339G>C
CA375442657
ENST00000371820.4:c.339G>T