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: COL5A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000482184.1:p.Thr1001Ser
CA2021833
ENST00000618828.1:c.3002C>G
CA349855199
ENST00000618828.1:c.3001A>T