PR:000000245 cartilage oligomeric matrix protein sequence variant G719D (human) cartilage oligomeric matrix protein sequence variant 22 (human)|hCOMP/var:G719D|UniProtKB:P49747-1, Gly-719, CHEBI:29958 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:11746044 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_017103 20080301 PRO:CNA