PR:000000249 hCOMP/var:26
"A cartilage oligomeric matrix protein (human) that has a Val residue at the position equivalent to region 391-394 of the amino acid sequence represented by UniProtKB:P49747-1." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007626 |