PR:000000260	cartilage oligomeric matrix protein sequence variant C348R (human)	cartilage oligomeric matrix protein sequence variant 6 (human)|hCOMP/var:C348R|UniProtKB:P49747-1, Cys-348, CHEBI:29952		associated_with_disease_progression	DOID:0080047	pseudoachondroplasia			PMID:11746045	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_017102	20080301	PRO:CNA